nsv3893131
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37, GRCh38, NCBI36
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:22,941,030
- Description:GRCh38/hg38 Xq23-27.1(chrX:117260292-140201321)x3 AND See cases
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 35149 SVs from 101 studies. See in: genome view
Overlapping variant regions from other studies: 35185 SVs from 101 studies. See in: genome view
Overlapping variant regions from other studies: 6259 SVs from 22 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3893131 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000023.11 | ChrX | 117,260,292 | 140,201,321 |
| nsv3893131 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 116,394,255 | 139,283,477 |
| nsv3893131 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000023.9 | ChrX | 116,278,283 | 139,111,143 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15145889 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000138145.5, VCV000149087.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15145889 | Submitted genomic | NC_000023.11:g.(?_ 117260292)_(140201 321_?)dup | GRCh38 (hg38) | NC_000023.11 | ChrX | 117,260,292 | 140,201,321 |
| nssv15145889 | Submitted genomic | NC_000023.10:g.(?_ 116394255)_(139283 477_?)dup | GRCh37 (hg19) | NC_000023.10 | ChrX | 116,394,255 | 139,283,477 |
| nssv15145889 | Submitted genomic | NC_000023.9:g.(?_1 16278283)_(1391111 43_?)dup | NCBI36 (hg18) | NC_000023.9 | ChrX | 116,278,283 | 139,111,143 |
No validation data were submitted for this variant
Clinical Assertions
| Variant Call ID | HGVS | Type | Allele Origin | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15145889 | GRCh37: NC_000023.10:g.(?_116394255)_(139283477_?)dup, GRCh38: NC_000023.11:g.(?_117260292)_(140201321_?)dup, NCBI36: NC_000023.9:g.(?_116278283)_(139111143_?)dup | copy number gain | not provided | See cases | Pathogenic | ClinVar | RCV000138145.5, VCV000149087.2 | 3 |